KCNQ2 encephalopathy: Emerging phenotype
โ
Sarah Weckhuysen; Simone Mandelstam; Arvid Suls; Dominique Audenaert; Tine Decon
๐
Article
๐
2012
๐
John Wiley and Sons
๐
English
โ 274 KB
Objective: KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a KCNQ2 mutation with a more severe outcome exist, but a definite relationship has not been established. In this study we investigated whether KCNQ2/3 mutatio